|
VPS33A
(HGNC:18179)
|
mucopolysaccharidosis-plus syndrome
(MONDO_0015012)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
arthrogryposis-like syndrome
(MONDO_0015241)
|
Moderate
|
|
|
FKBP10
(HGNC:18169)
|
Bruck syndrome 1
(MONDO_0009806)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
osteogenesis imperfecta type 11
(MONDO_0012592)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
osteogenesis imperfecta type 3
(MONDO_0009804)
|
Strong
|
|
|
TXNRD2
(HGNC:18155)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
PHF6
(HGNC:18145)
|
Borjeson-Forssman-Lehmann syndrome
(MONDO_0010537)
|
Strong
|
|
|
DCDC2
(HGNC:18141)
|
ciliopathy
(MONDO_0005308)
|
Moderate
|
|
|
AFG2A
(HGNC:18119)
|
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
(MONDO_0014698)
|
Moderate
|
|
|
SOX17
(HGNC:18122)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Strong
|
|
|
MFRP
(HGNC:18121)
|
nanophthalmia
(MONDO_0005514)
|
Strong
|
|
|
TRPV4
(HGNC:18083)
|
neuromuscular disease
(MONDO_0019056)
|
Strong
|
|
|
TRPV4
(HGNC:18083)
|
familial digital arthropathy-brachydactyly
(MONDO_0011732)
|
Moderate
|
|
|
TRPV4
(HGNC:18083)
|
neuronopathy, distal hereditary motor, autosomal dominant 8
(MONDO_0010839)
|
Moderate
|
|
|
TRPV4
(HGNC:18083)
|
spondylometaphyseal dysplasia, Kozlowski type
(MONDO_0008477)
|
Definitive
|
|
|
TRPV4
(HGNC:18083)
|
scapuloperoneal spinal muscular atrophy, autosomal dominant
(MONDO_0008408)
|
Strong
|
|
|
TRPV4
(HGNC:18083)
|
parastremmatic dwarfism
(MONDO_0008196)
|
Limited
|
|
|
TRPV4
(HGNC:18083)
|
metatropic dysplasia
(MONDO_0007986)
|
Definitive
|
|
|
TRPV4
(HGNC:18083)
|
autosomal dominant brachyolmia
(MONDO_0007232)
|
Moderate
|
|
|
ARX
(HGNC:18060)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Strong
|
|